基因名称(Gene Name)
CDKL5 STK9
蛋白名称
Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Serine/threonine-protein kinase 9)
免疫原
Synthesized peptide derived from human protein . at AA range: 30-110
特异性
CDKL5 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008],
功能
catalytic activity:ATP + a protein = ADP + a phosphoprotein.,caution:It is uncertain whether Met-1 or Met-10 is the initiator.,disease:Chromosomal aberrations involving CDKL5 are a cause of X-linked infantile spasm syndrome (ISSX) [MIM:308350]; also known as X-linked West syndrome. Translocation t(X;6)(p22.3;q14); translocation t(X;7)(p22.3;p15). ISSX is characterized by infantile spasms, hypsarrhythmia on EEG, and developmental arrest leading to severe to profound mental retardation.,disease:Defects in CDKL5 are a cause of atypical CDKL5-related Rett syndrome [MIM:300672]. Rett syndrome is an X-linked dominant disease. It is a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements and develop microcephaly, se
